Results 1 -
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"Deafness," autosomal recessive 14
- ... DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, ...
- ... alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet. 1999 Mar;8(3): ...
- The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, ...
- ... dominant keratitis-ichthyosis-hearing loss syndrome Keratitis-ichthyosis-deafness syndrome, autosomal recessive KID syndrome National Organization for Rare Disorders (NORD) ...
- ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED ...
- ... related heart abnormalities, but their hearing is normal. Autosomal recessive long QT syndrome (LQTS) Cardio-auditory-syncope syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease Jervell-Lange Nielsen ...
- ... include nearsightedness as a feature. These conditions include autosomal recessive congenital ... ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Congenital deafness with inner ear agenesis, microtia, and microdontia Deafness ...
- ... basement membrane nephropathy). ... Registry: Autosomal recessive Alport syndrome Genetic Testing Registry: X-linked Alport ...
- ... IOSCA. TWNK This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
